Objectives: To describe the complex phenotype of ATP1A3 and second to report new
mutation of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was …

Background and Objectives ATP1A3 is associated with a broad spectrum of predominantly
neurologic disorders, which continues to expand beyond the initially defined phenotypes of …

The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ
protein complex. The α3 isoform is required as a rescue pump, after repeated action …

Background: ATP1A1 encodes an α1 isoform of Na+/K+-ATPase, which is expressed
abundantly in kidneys and central nervous system. ATP1A1 variants may cause Na+/K+ …

Objective With detailed studies of ATP1A3-related diseases, the phenotypic spectrum of
ATP1A3 has greatly expanded. This study aimed to potentially identify the mechanisms by …

Background ATP1A3 is a gene that encodes the ATPase Na+/K+ transporting subunit alpha-
3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance …

Objective: We aimed to delineate the clinical and genetic spectrum of ATP1A3-related
disorders and recognition of a potential genotype-phenotype correlation. Methods: We …

Background Mutations in the ATP1A3 gene are known to be the cause of three distinct
neurological syndromes including alternating hemiplegia of childhood (AHC), rapid-onset …

ATP1A3 related disease is a clinically heterogeneous condition currently classified as
alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar …

Objective Variants in the ATP1A2 gene exhibit a wide clinical spectrum, ranging from familial
hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic …